Clinical Diagnostic Labs

Biochemical genetics laboratory

The OHSU Biochemical Genetics Laboratory is dedicated to providing specialized laboratory testing and comprehensive diagnostic evaluation of rare and unusual inherited metabolic diseases. Our expertise includes interpretation of results which requires detailed knowledge of the field by individuals specializing in clinical biochemical genetics and certified by the American Board of Medical Genetics (ABMGG).

Knight Diagnostic Laboratories Cytogenetics Laboratory

With over 50 years of operations at OHSU, the Knight Diagnostic Laboratories Cytogenetics Laboratory provides full service cytogenetics testing for genetic counselors, geneticists, pathologists, and other care providers. Clinical indications for constitutional cytogenetic analysis include high risk pregnancy, products of conception, dysmorphic features, intellectual disability, autism, heart defects, short stature, infertility, and recurrent pregnancy loss.

Molecular diagnostic center

The OHSU Molecular Diagnostic Center provides DNA based testing for diagnosis, carrier detection, and prenatal diagnosis of many genetic diseases. All current molecular genetic technologies including Southern blotting, polymerase chain reaction (PCR), denaturing high performance liquid chromatography (DHPLC) and DNA sequencing techniques are utilized. These accurate tests are reasonable in cost and require only a blood sample, therefore offering many advantages in the evaluation of patients requiring any of the above. All tests are performed using stringent clinical protocols, assuring prompt turnaround of results. All reports include quantitative predictions of risk based on DNA data and other clinical findings. A board certified clinical molecular geneticist and a board certified clinical medical geneticist report abnormal results directly to the referring physician and discuss interpretation. Immediate final reports are communicated by telephone or FAX transmission.